Conclusion
In summary, our study comprehensively elucidates the association of 12 ultrasonographic anomalies and 12 soft markers with pCNV in comparison to fetuses with no identifiable anomalies, providing reliable reference for appropriate genetic counselling of fetuses with different ultrasonographic findings. We recommend CNV analysis for fetuses with structural anomalies and specific soft markers, such as increased nuchal translucency, mild ventriculomegaly, absent or hypoplastic nasal bone, single umbilical artery, and thickened nuchal fold. Furthermore, we expect that, this large dataset could be used in machine learning for artificial intelligence-based assessment of fetal genetic risk in the future.